AutismKB 2.0

View SNVs/InDels


Entrez ID Gene Symbol SNP name Chr Position ref alt Evidence Number Total Number of Evidence Result
GWAS Low-Scale Genetic Association Studies NGS de novo Mutation Studies NGS Mosaic Mutation Studes NGS Other Studies Low-Scale Gene Studies
AutG22999RIMS1 - 6 73023281 G G/T 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 73043394 C A/C 0 0 0 0 1 0 1 Positive
AutG22999RIMS1 - 6 73100399 C A/C 0 0 0 0 1 0 1 Positive
AutG56479KCNQ5 - 6 73900363 G A 0 0 0 0 1 0 1
AutG25821MTO1 - 6 74207618 C T 0 0 0 0 1 0 1
AutG134728IRAK1BP1 - 6 79607982 A G 0 0 0 0 1 0 1
AutG55023PHIP - 6 79650639 A A/G 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79655019 T G/T 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79679845 A A/T 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79692757 T C/T 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79695138 T C/T 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79697996 C C/T 0 0 0 0 1 0 1 Positive
AutG55023PHIP - 6 79727285 G A/G 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87925621 A A/G 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87953317 T C/T 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87964463 C C/G 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87964539 C C/T 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87965556 C A/C 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87965560 A A/G 0 0 0 0 1 0 1 Positive
AutG23036ZNF292 - 6 87965853 G A/G 0 0 0 0 1 0 1 Positive

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018